ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2554GAG[1] (p.Glu853del)

dbSNP: rs766906365
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002230812 SCV000548297 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2024-11-05 criteria provided, single submitter clinical testing This variant, c.2557_2559del, results in the deletion of 1 amino acid(s) of the MSH2 protein (p.Glu853del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs766906365, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with MSH2-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV003470450 SCV004196817 uncertain significance Lynch syndrome 1 2023-06-04 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.